Haplogroup HV (mtDNA)
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Haplogroup HV is a
human mitochondrial DNA Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondri ...
(mtDNA) haplogroup.


Origin

Haplogroup HV derives from the haplogroup R0, which in turn descends from
haplogroup R Haplogroup R may refer to: * Haplogroup R (mtDNA), a human mitochondrial DNA (mtDNA) haplogroup * Haplogroup R (Y-DNA) Haplogroup R, or R-M207, is a Y-chromosome DNA haplogroup. It is both numerous and widespread amongst modern populations. S ...
. HV is also the ancestral clade to the haplogroups H and V. A possible origin of HV haplogroup is in the region of Western Iran, Mesopotamia, and the South Caucasus, where the highest prevalence of HV has been found.


Distribution

Haplogroup HV is found mainly in
Western Asia Western Asia, West Asia, or Southwest Asia, is the westernmost subregion of the larger geographical region of Asia, as defined by some academics, UN bodies and other institutions. It is almost entirely a part of the Middle East, and includes Ana ...
,
Central Asia Central Asia, also known as Middle Asia, is a subregion, region of Asia that stretches from the Caspian Sea in the west to western China and Mongolia in the east, and from Afghanistan and Iran in the south to Russia in the north. It includes t ...
,
Southern Europe Southern Europe is the southern regions of Europe, region of Europe. It is also known as Mediterranean Europe, as its geography is essentially marked by the Mediterranean Sea. Definitions of Southern Europe include some or all of these countrie ...
,
Eastern Europe Eastern Europe is a subregion of the Europe, European continent. As a largely ambiguous term, it has a wide range of geopolitical, geographical, ethnic, cultural, and socio-economic connotations. The vast majority of the region is covered by Russ ...
, and
North Africa North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
. In Africa, the clade peaks among
Egyptians Egyptians ( arz, المَصرِيُون, translit=al-Maṣriyyūn, ; arz, المَصرِيِين, translit=al-Maṣriyyīn, ; cop, ⲣⲉⲙⲛ̀ⲭⲏⲙⲓ, remenkhēmi) are an ethnic group native to the Nile, Nile Valley in Egypt. Egyptian ...
inhabiting El-Hayez oasis (14.3%). with the HV0 subclade occurring among Mozabite
Berbers , image = File:Berber_flag.svg , caption = The Berber ethnic flag , population = 36 million , region1 = Morocco , pop1 = 14 million to 18 million , region2 = Algeria , pop2 ...
(8.24%),
S5 Table
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Libya Libya (; ar, ليبيا, Lībiyā), officially the State of Libya ( ar, دولة ليبيا, Dawlat Lībiyā), is a country in the Maghreb region in North Africa. It is bordered by the Mediterranean Sea to the north, Egypt to Egypt–Libya bo ...
ns (7.4%), Reguibate Sahrawi (6.48%),
Zenata The Zenata (Berber language: Iznaten) are a group of Amazigh (Berber) tribes, historically one of the largest Berber confederations along with the Sanhaja and Masmuda. Their lifestyle was either nomadic or semi-nomadic. Etymology ''Iznaten (ⵉ ...
Berbers (5.48%), and
Algeria ) , image_map = Algeria (centered orthographic projection).svg , map_caption = , image_map2 = , capital = Algiers , coordinates = , largest_city = capital , relig ...
ns (4.84% total; 2.15%-3.75% in
Oran Oran ( ar, وَهران, Wahrān) is a major coastal city located in the north-west of Algeria. It is considered the second most important city of Algeria after the capital Algiers, due to its population and commercial, industrial, and cultural ...
). In a study published in 2013, haplogroup HV(xHV0, H) was found in great percentages of populations in
Afghanistan Afghanistan, officially the Islamic Emirate of Afghanistan,; prs, امارت اسلامی افغانستان is a landlocked country located at the crossroads of Central Asia and South Asia. Referred to as the Heart of Asia, it is bordere ...
: 11.0% (14/127) Uzbek (including 1/127 HV2 and 1/127 HV6), 8.2% (12/146) Tajik (including 3/146 HV6 and 1/146 HV2), 8.0% (6/75) Turkmen (including 1/75 HV2), 6.4% (5/78) Hazara, and 5.6% (5/90)
Pashtun Pashtuns (, , ; ps, پښتانه, ), also known as Pakhtuns or Pathans, are an Iranian ethnic group who are native to the geographic region of Pashtunistan in the present-day countries of Afghanistan and Pakistan. They were historically re ...
.Di Cristofaro J, Pennarun E, Mazières S, Myres NM, Lin AA, ''et al.'' (2013), "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge." ''PLoS ONE'' 8(10): e76748. doi:10.1371/journal.pone.0076748 Furthermore, haplogroup HV0 was found in 1.4% (2/146) of the sample of Afghanistani Tajiks, but it is unclear whether these belong to the haplogroup V subclade. The subclade HV1a1a has been found in 1.8% (3/169) of
Yakuts The Yakuts, or the Sakha ( sah, саха, ; , ), are a Turkic ethnic group who mainly live in the Republic of Sakha in the Russian Federation, with some extending to the Amur, Magadan, Sakhalin regions, and the Taymyr and Evenk Districts ...
in one studyDuggan AT, Whitten M, Wiebe V, Crawford M, Butthof A, ''et al.'' (2013), "Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers." ''PLoS ONE'' 8(12): e83570. doi:10.1371/journal.pone.0083570 and 1.2% (5/423) of Yakuts in another studySardana A Fedorova, Maere Reidla, Ene Metspalu, ''et al.'', "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia." ''BMC Evolutionary Biology'' 2013, 13:127. http://www.biomedcentral.com/1471-2148/13/127 published in 2013. A 2003 study was published reporting on the mtDNA sequencing of the bones of two 24,000-year-old anatomically modern humans of the
Cro-Magnon Early European modern humans (EEMH), or Cro-Magnons, were the first early modern humans (''Homo sapiens'') to settle in Europe, migrating from Western Asia, continuously occupying the continent possibly from as early as 56,800 years ago. They ...
type from southern
Italy Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical re ...
. The study showed one was of either haplogroup HV or R0. Haplogroup HV has also been found among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from the Pre-Ptolemaic/late
New Kingdom New is an adjective referring to something recently made, discovered, or created. New or NEW may refer to: Music * New, singer of K-pop group The Boyz Albums and EPs * ''New'' (album), by Paul McCartney, 2013 * ''New'' (EP), by Regurgitator, ...
,
Ptolemaic Ptolemaic is the adjective formed from the name Ptolemy, and may refer to: Pertaining to the Ptolemaic dynasty * Ptolemaic dynasty, the Macedonian Greek dynasty that ruled Egypt founded in 305 BC by Ptolemy I Soter * Ptolemaic Kingdom Pertaining ...
, and
Roman Roman or Romans most often refers to: *Rome, the capital city of Italy *Ancient Rome, Roman civilization from 8th century BC to 5th century AD *Roman people, the people of ancient Rome *''Epistle to the Romans'', shortened to ''Romans'', a letter ...
periods. Haplogroup HV has been found in various fossils that were analysed for ancient DNA, including specimens associated with the Alföld Linear Pottery (HV, Mezőkövesd-Mocsolyás, 1/3 or 33%),
Linearbandkeramik The Linear Pottery culture (LBK) is a major archaeological horizon of the European Neolithic period, flourishing . Derived from the German ''Linearbandkeramik'', it is also known as the Linear Band Ware, Linear Ware, Linear Ceramics or Inci ...
(HV0a, Fajsz-Garadomb, 1/2 or 50%), and Germany Middle Neolithic (HV, Quedlinburg, 1/2 or 50%) cultures.


Subclades


Tree

This phylogenetic tree of haplogroup HV subclades is based on the paper by van Oven (2009) and Malyarchuk et al. (2008). *HV **HV0 (formerly known as pre-V) ***HV0a (formerly known as preV*2) ****HV0a1 **** V ***195 (formerly known as preV*1) ****HV0b ****HV0c **HV1 ***HV1a ****HV1a1 *****HV1a1a ****HV1a2 ***HV1b ****HV1b1 ****HV1b2 ***HV1c **73 ***HV2 ****HV2a **HV4 ***HV4a **HV5 **16311 (formerly known as HV3) (13±2 kya) ***HV6 (formerly known as HV3b) (15.4±4.5 kya) ****HV6a (formerly known as HV3b1) ***HV7 (formerly known as HV3c) ***HV8 (formerly known as HV3d) ***HV9 (formerly known as HV3a) (8.2±2.9 kya) ****152 *****HV9a ***HV10 ** H


HV0 and HVSI C16298T

Defining mutation C/T at location 16298 in segment I one of the hypervariable segment is labeled as HV0 as of 2012. The percentage of people that tested positive for the above mutation in a study of western European populations in 2002 is given below. In a study of Russian and Polish populations the percentage of people who tested positive for this mutation was five percent for both populations. A study of Iraqis summarized a number of previous studies showing low levels of this mutation amongst Middle Eastern and Italian populations. This mutation has been detected in
ancient DNA Ancient DNA (aDNA) is DNA isolated from ancient specimens. Due to degradation processes (including cross-linking, deamination and fragmentation) ancient DNA is more degraded in comparison with contemporary genetic material. Even under the bes ...
obtained from one of nineteen human remains excavated on the island of Gotland, Sweden, dated to 2,800-2,000 BC and archaeologically classified as belonging to the
Pitted Ware culture The Pitted Ware culture ( 3500 BC– 2300 BC) was a hunter-gatherer culture in southern Scandinavia, mainly along the coasts of Svealand, Götaland, Åland, north-eastern Denmark and southern Norway. Despite its Mesolithic economy, it i ...
.


See also

*
Genealogical DNA test A genealogical DNA test is a DNA-based test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or (with lower reliability) to estimate the ethnic mixt ...
*
Genetic genealogy Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used b ...
*
Population genetics Population genetics is a subfield of genetics that deals with genetic differences within and between populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as adaptation, speciation, and pop ...


References


External links

*General **Ian Logan'
Mitochondrial DNA Site
**Mannis van Oven'
Phylotree
*Haplogroup HV

from the
Genographic Project The Genographic Project, launched on 13 April 2005 by the National Geographic Society and IBM, was a genetic anthropological study (sales discontinued on 31 May 2019) that aimed to map historical human migrations patterns by collecting and ...

The India Genealogical DNA Project
at
Family Tree DNA FamilyTreeDNA is a division of Gene by Gene, a commercial genetic testing company based in Houston, Texas. FamilyTreeDNA offers analysis of autosomal DNA, YDNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database ...

mtDNA Haplogroup HV Project
at
Family Tree DNA FamilyTreeDNA is a division of Gene by Gene, a commercial genetic testing company based in Houston, Texas. FamilyTreeDNA offers analysis of autosomal DNA, YDNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database ...
{{DEFAULTSORT:Haplogroup Hv (Mtdna) HV